TTPA, alpha tocopherol transfer protein, 7274

N. diseases: 147; N. variants: 31
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4016662
Disease: ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY
ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY 		disease Finding 1 5 0.100 None 0 5
CUI: C4016663
Disease: ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY
ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY 		disease Finding 1 1 0.100 None 0 1
CUI: C0752255
Disease: Impairment, Light Touch Sensation
Impairment, Light Touch Sensation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2 0.300 None 1.000 1 2000 2000
CUI: C0752256
Disease: Pain Sensation Diminished
Pain Sensation Diminished 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2 0.300 None 1.000 1 2000 2000
CUI: C0752257
Disease: Pinprick Sensation Diminished
Pinprick Sensation Diminished 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2 0.300 None 1.000 1 2000 2000
CUI: C0752258
Disease: Position Sense Disorders
Position Sense Disorders 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2000 2000
CUI: C0752260
Disease: Proprioceptive Disorders
Proprioceptive Disorders 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2 0.300 None 1.000 1 2000 2000
CUI: C0752261
Disease: Thermal Sensation Disorders
Thermal Sensation Disorders 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2000 2000
CUI: C0752262
Disease: Somatosensory Disorders
Somatosensory Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2000 2000
CUI: C0155536
Disease: Paracousis
Paracousis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 3 0.300 None 1.000 1 2000 2000
CUI: C0233726
Disease: Aprosodia
Aprosodia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 3 0.300 None 1.000 1 2000 2000
CUI: C0260662
Disease: Hearing problem
Hearing problem 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 3 0.300 None 1.000 1 2000 2000
CUI: C0751512
Disease: Dysglossia
Dysglossia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 3 0.300 None 1.000 1 2000 2000
CUI: C0751513
Disease: Rhinolalia
Rhinolalia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 3 0.300 None 1.000 1 2000 2000
CUI: C0751514
Disease: Verbal Fluency Disorders
Verbal Fluency Disorders 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2000 2000
CUI: C0877848
Disease: Distorted hearing
Distorted hearing 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 3 0.300 None 1.000 1 2000 2000
CUI: C1510450
Disease: Dysacusis
Dysacusis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 3 0.300 None 1.000 1 2000 2000
CUI: C3495145
Disease: Dyslalia
Dyslalia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 4 0.300 None 1.000 1 2000 2000
CUI: C0234784
Disease: Reflex, Gag, Absent
Reflex, Gag, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2000 2000
CUI: C0241772
Disease: Reflex, Deep Tendon, Absent
Reflex, Deep Tendon, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2000 2000
CUI: C0277839
Disease: Hoffman's Reflex
Hoffman's Reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2000 2000
CUI: C0277850
Disease: Reflex, Pendular
Reflex, Pendular 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2000 2000
CUI: C0278211
Disease: Reflex, Corneal, Absent
Reflex, Corneal, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2000 2000
CUI: C0522345
Disease: Reflex, Acoustic, Abnormal
Reflex, Acoustic, Abnormal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2000 2000
CUI: C0558846
Disease: Reflex, Triceps, Absent
Reflex, Triceps, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2000 2000